Desmoid tumor in Gardner's Syndrome presented as acute abdomen
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Open Access
Case report
Desmoid tumor in Gardner's Syndrome presented as acute abdomen Andreas Hatzimarkou1, Dimitrios Filippou*1, Vasilios Papadopoulos2, Georgios Filippou1, Spiros Rizos1 and Panagiotis Skandalakis3 Address: 11st Department of General Surgery, GP Hospital "Tzaneio", Pireaus, Tzani & Afentouli str. Pireaus, Athens, Greece, 2Department of Internal Medicine, Medical School, Democrition University of Thrace, Alexandroupoli, Greece and 31st Department of Surgery, Medical School, University of Athens, Mikras Asias 75, 11527 Goudi, Athens, Greece Email: Hatzimarkou Andreas - [email protected]; Filippou Dimitrios* - [email protected]; Papadopoulos Vasilios - [email protected]; Filippou Georgios - [email protected]; Rizos Spiros - [email protected]; Skandalakis Panagiotis - [email protected] * Corresponding author
Published: 28 March 2006 World Journal of Surgical Oncology 2006, 4:18
doi:10.1186/1477-7819-4-18
Received: 13 October 2005 Accepted: 28 March 2006
This article is available from: http://www.wjso.com/content/4/1/18 © 2006 Andreas et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract Background: Gardner's syndrome can occasionally be complicated with intra-abdominal desmoid tumor. These tumors usually remain asymptomatic but can exhibit symptoms due to intestinal, vascular and ureteral compression and obstruction. Case presentation: A rare case of a 41-year-old male patient with Gardner's syndrome complicated with intra-abdominal desmoid tumor, which first presented as acute abdomen, is presented. Conclusion: Extra-abdominal manifestations of Gardner's syndrome along with a palpable abdominal mass would raise suspicion for the presence of a desmoid tumor in the majority of cases. In life-threatening cases, surgical treatment should be considered as a palliative approach, though the extent of excision remains debatable
Introduction Gardner's syndrome is considered to be a variant of familial adenomatous polyposis, as both entities are caused by mutations in the APC gene, 20% of which are de novo [1]. Gardner's syndrome is characterized by colorectal cancer in early adult life secondary to extensive adenomatous polyps of the colon. Polyps also develop in the upper gastrointestinal tract and malignancies may occur in other sites including the brain and the thyroid. Moreover, osteomatosis of the skull and the mandible, sebaceous cysts, and cutaneous and subcutaneous fibromas are additional characteristics [2].
Hereditary desmoid disease has also been found to be caused, at least in some cases, by mutation in the APC gene [3], whereas mutations in the CTNNB1 gene, responsible for the production of beta-catenin, have also been observed in somatic desmoid tumors [4]. Nevertheless, the partially common genetic
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